GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
VANGL1 I92Vinsufficiently evaluated not reviewed, f=0.001unknown var-GS19670-1100-36-ASM
VANGL1 A114Tinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
VANGL1 A116Tinsufficiently evaluated none, f=0.124unknown

(2 web hits)

hu34D5B9 exome (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19700-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19649-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
VANGL1 R175Winsufficiently evaluated not reviewed, f=0.001unknown var-GS19648-1100-36-ASM
VANGL1 V239Iinsufficiently evaluated pathogenicunknown

(38 web hits)

VANGL1 R274Qinsufficiently evaluated pathogenic, f=0.000unknown

(36 web hits)

VANGL1 M328Tinsufficiently evaluated pathogenic, f=0.000unknown

(33 web hits)

VANGL1 S338Xinsufficiently evaluated noneunknown
VANGL1 E347Ainsufficiently evaluated not reviewed, f=0.017unknown var-GS19025-1100-36-ASM
VANGL1 G434Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
Total results: 10

Gene search

"GENE" or "GENE A123C":

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